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MGP000390

Record overview

MGPD IDMGP000390
Gene ID788
SpeciesHomo sapiens (Human)
Gene Namesolute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Gene Symbol SLC25A20
SynonymsCAC; CACT;
Alternate namesmitochondrial carnitine/acylcarnitine carrier protein;
Chromosome3
Map Location3p21.31
SummaryThis gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for SLC25A20

Proteins

mitochondrial carnitine/acylcarnitine carrier protein
Refseq ID:NP_000378
Protein GI:4557403
UniProt ID:O43772
mRNA ID:NM_000387
Length:301
RefSeq Status:
MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQ
QKHPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPE
GKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPN
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